Carbonic Anhydrases in Cnidarians: Novel Perspectives from the Octocorallian Corallium rubrum von Le Goff, Carine, Ganot, Philippe, Zoccola, Didier, Caminiti-Segonds, Natacha, Allemand, Denis, Tambutté, Sylvie

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A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis von Arnaud, Pauline, Racine, Caroline, Hanna, Nadine, Thevenon, Julien, Alessandri, Jean-Luc, Bonneau, Dominique, Clayton-Smith, Jill, Coubes, Christine, Delobel, Bruno, Dupuis-Girod, Sophie, Gouya, Laurent, Odent, Sylvie, Carmignac, Virginie, Thauvin-Robinet, Christel, Le Goff, Carine, Jondeau, Guillaume, Boileau, Catherine, Faivre, Laurence

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Adamts5, the gene encoding a proteoglycan-degrading metalloprotease, is expressed by specific cell lineages during mouse embryonic development and in adult tissues von McCulloch, Daniel R., Goff, Carine Le, Bhatt, Sumantha, Dixon, Laura J., Sandy, John D., Apte, Suneel S.

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Early-Onset Aortic Dissection: Characterization of a New Pathogenic Splicing Variation in the MYH11 Gene with Several In-Frame Abnormal Transcripts von Arnaud, Pauline, Cadenet, Margaux, Mougin, Zakaria, Le Goff, Carine, Perbet, Sébastien, Francois, Mathilde, Dupuis-Girod, Sophie, Boileau, Catherine, Hanna, Nadine

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The ADAMTS(L) family and human genetic disorders von GOFF, Carine Le, CORMIER-DAIRE, Valérie

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Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency von Delhon, Laure, Mahaut, Clémentine, Goudin, Nicolas, Gaudas, Emilie, Piquand, Kevin, Le Goff, Wilfried, Cormier-Daire, Valérie, Le Goff, Carine

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Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome von Arnaud, Pauline, Morel, Hélène, Milleron, Olivier, Gouya, Laurent, Francannet, Christine, Da Costa, Antoine, Le Goff, Carine, Jondeau, Guillaume, Boileau, Catherine, Hanna, Nadine

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Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome von Le Goff, Carine, Rogers, Curtis, Le Goff, Wilfried, Pinto, Graziella, Bonnet, Damien, Chrabieh, Maya, Alibeu, Olivier, Nistchke, Patrick, Munnich, Arnold, Picard, Capucine, Cormier-Daire, Valérie

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Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias von Arnaud, Pauline, Mougin, Zakaria, Boileau, Catherine, Le Goff, Carine

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Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis von Michot, Caroline, Le Goff, Carine, Goldenberg, Alice, Abhyankar, Avinash, Klein, Céline, Kinning, Esther, Guerrot, Anne-Marie, Flahaut, Philippe, Duncombe, Alice, Baujat, Genevieve, Lyonnet, Stanislas, Thalassinos, Caroline, Nitschke, Patrick, Casanova, Jean-Laurent, Le Merrer, Martine, Munnich, Arnold, Cormier-Daire, Valérie

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Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome von Le Goff, Carine, Mahaut, Clémentine, Abhyankar, Avinash, Le Goff, Wilfried, Serre, Valérie, Afenjar, Alexandra, Destrée, Anne, di Rocco, Maja, Héron, Delphine, Jacquemont, Sébastien, Marlin, Sandrine, Simon, Marleen, Tolmie, John, Verloes, Alain, Casanova, Jean-Laurent, Munnich, Arnold, Cormier-Daire, Valérie

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Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias von Le Goff, Carine, Mahaut, Clémentine, Wang, Lauren W., Allali, Slimane, Abhyankar, Avinash, Jensen, Sacha, Zylberberg, Louise, Collod-Beroud, Gwenaelle, Bonnet, Damien, Alanay, Yasemin, Brady, Angela F., Cordier, Marie-Pierre, Devriendt, Koen, Genevieve, David, Kiper, Pelin Özlem Simsek, Kitoh, Hiroshi, Krakow, Deborah, Lynch, Sally Ann, Le Merrer, Martine, Mégarbane, André, Mortier, Geert, Odent, Sylvie, Polak, Michel, Rohrbach, Marianne, Sillence, David, Stolte-Dijkstra, Irene, Superti-Furga, Andrea, Rimoin, David L., Topouchian, Vicken, Unger, Sheila, Zabel, Bernhard, Bole-Feysot, Christine, Nitschke, Patrick, Handford, Penny, Casanova, Jean-Laurent, Boileau, Catherine, Apte, Suneel S., Munnich, Arnold, Cormier-Daire, Valérie

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Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm von Elbitar, Sandy, Renard, Marjolijn, Arnaud, Pauline, Hanna, Nadine, Jacob, Marie-Paule, Guo, Dong-Chuan, Tsutsui, Ko, Gross, Marie-Sylvie, Kessler, Ketty, Tosolini, Laurent, Dattilo, Vincenzo, Dupont, Sebastien, Jonquet, Jeremie, Langeois, Maud, Benarroch, Louise, Aubart, Melodie, Ghaleb, Youmna, Abou Khalil, Yara, Varret, Mathilde, El Khoury, Petra, Ho-Tin-Noé, Benoit, Alembik, Yves, Gaertner, Sébastien, Isidor, Bertrand, Gouya, Laurent, Milleron, Olivier, Sekiguchi, Kiyotoshi, Milewicz, Dianna, De Backer, Julie, Le Goff, Carine, Michel, Jean-Baptiste, Jondeau, Guillaume, Sakai, Lynn Y., Boileau, Catherine, Abifadel, Marianne

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ADAMTS Proteins and Vascular Remodeling in Aortic Aneurysms von Mougin, Zakaria, Huguet Herrero, Julia, Boileau, Catherine, Le Goff, Carine

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Editorial: Women in science: Genetics von de Vasconcellos, Jaira Ferreira, Abedalthagafi, Malak, Calo, Silvia, Dajani, Rana, Dlamini, Zodwa, Hidalgo, Bertha, Le Goff, Carine, Vasanthakumar, Aparna

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Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia von Michot, Caroline, Le Goff, Carine, Blair, Edward, Blanchet, Patricia, Capri, Yline, Gilbert-Dussardier, Brigitte, Goldenberg, Alice, Henderson, Alex, Isidor, Bertrand, Kayserili, Hulya, Kinning, Esther, Le Merrer, Martine, Lyonnet, Stanislas, Odent, Sylvie, Simsek-Kiper, Pelin Ozlem, Quelin, Chloé, Savarirayan, Ravi, Simon, Marleen, Splitt, Miranda, Verhagen, Judith M A, Verloes, Alain, Munnich, Arnold, Baujat, Geneviève, Cormier-Daire, Valérie

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Not All Floating-Harbor Syndrome Cases are Due to Mutations in Exon 34 of SRCAP von Goff, Carine Le, Mahaut, Clémentine, Bottani, Armand, Doray, Berenice, Goldenberg, Alice, Moncla, Anne, Odent, Sylvie, Nitschke, Patrick, Munnich, Arnold, Faivre, Laurence, Cormier-Daire, Valérie

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Identification of CANT1 Mutations in Desbuquois Dysplasia von Huber, Céline, Oulès, Bénédicte, Bertoli, Marta, Chami, Mounia, Fradin, Mélanie, Alanay, Yasemin, Al-Gazali, Lihadh I., Ausems, Margreet G.E.M., Bitoun, Pierre, Cavalcanti, Denise P., Krebs, Alexander, Le Merrer, Martine, Mortier, Geert, Shafeghati, Yousef, Superti-Furga, Andrea, Robertson, Stephen P., Le Goff, Carine, Muda, Andrea Onetti, Paterlini-Bréchot, Patrizia, Munnich, Arnold, Cormier-Daire, Valérie

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Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis von Nizon, Mathilde, Huber, Céline, De Leonardis, Fabio, Merrina, Rodolphe, Forlino, Antonella, Fradin, Mélanie, Tuysuz, Beyhan, Abu-Libdeh, Bassam Y., Alanay, Yasemin, Albrecht, Beate, Al-Gazali, Lihadh, Basaran, Sarenur Yilmaz, Clayton-Smith, Jill, Désir, Julie, Gill, Harinder, Greally, Marie T., Koparir, Erkan, van Maarle, Merel C, MacKay, Sara, Mortier, Geert, Morton, Jenny, Sillence, David, Vilain, Catheline, Young, Ian, Zerres, Klaus, Le Merrer, Martine, Munnich, Arnold, Le Goff, Carine, Rossi, Antonio, Cormier-Daire, Valérie

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Regulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and dermatospar... von Le Goff, Carine, Somerville, Robert P T, Kesteloot, Frederic, Powell, Kimerly, Birk, David E, Colige, Alain C, Apte, Suneel S

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